Allele Registry

Canonical Allele Identifier: PA2827765230

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180811

ClinVar Variation:

189858

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Met949Arg	CA303122 NM_001353950.2:c.2846T>G